Canonical Allele Identifier: CA381676602

Gene: SHANK2

Linked Data

• MyVariant Identifiers: chr11:g.70319486C>T (hg19) ; chr11:g.70473381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473381C>T , CM000673.2:g.70473381C>T	GRCh38
NC_000011.9:g.70319486C>T , CM000673.1:g.70319486C>T	GRCh37
NC_000011.8:g.69997134C>T	NCBI36
NG_042866.1:g.656416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3271G>A	ENSP00000345193.7:p.Val1091Ile
ENST00000412252.6:c.816G>A	ENSP00000414876.2:n.816G>A
ENST00000601538.6:c.5038G>A MANE Select	ENSP00000469689.2:p.Val1680Ile
ENST00000654939.1:c.2547G>A
ENST00000656230.1:c.3901G>A	ENSP00000499561.1:p.Val1301Ile
ENST00000659264.1:c.3328G>A	ENSP00000499270.1:p.Val1110Ile
ENST00000338508.8:c.3274G>A	ENSP00000345193.6:p.Val1092Ile
ENST00000357171.7:c.*42G>A	ENSP00000349694.4:n.*42G>A
ENST00000409161.5:c.3250G>A	ENSP00000386491.1:p.Val1084Ile
ENST00000412252.5:c.814G>A
ENST00000423696.6:c.3901G>A	ENSP00000394536.2:p.Val1301Ile
ENST00000424924.5:c.2875G>A	ENSP00000402944.1:p.Val959Ile
ENST00000449833.6:c.3274G>A	ENSP00000399423.3:p.Val1092Ile
ENST00000601538.5:c.5038G>A	ENSP00000469689.2:p.Val1680Ile
ENST00000606715.3:n.1790G>A
NM_012309.4:c.5038G>A	NP_036441.2:p.Val1680Ile
NM_133266.4:c.3274G>A	NP_573573.2:p.Val1092Ile
NR_110766.1:n.892G>A
XM_005277930.2:c.5038G>A	XP_005277987.1:p.Val1680Ile
XM_005277932.2:c.3901G>A	XP_005277989.1:p.Val1301Ile
XM_006718478.2:c.5008G>A	XP_006718541.1:p.Val1670Ile
XM_011544854.1:c.5050G>A	XP_011543156.1:p.Val1684Ile
XM_011544855.1:c.5029G>A	XP_011543157.1:p.Val1677Ile
XM_011544856.1:c.5023G>A	XP_011543158.1:p.Val1675Ile
XM_011544857.1:c.5002G>A	XP_011543159.1:p.Val1668Ile
XM_011544859.1:c.3913G>A	XP_011543161.1:p.Val1305Ile
XM_005277932.3:c.3901G>A	XP_005277989.1:p.Val1301Ile
XM_017017387.1:c.5038G>A	XP_016872876.1:p.Val1680Ile
XM_017017388.1:c.5038G>A	XP_016872877.1:p.Val1680Ile
XM_017017389.1:c.5011G>A	XP_016872878.1:p.Val1671Ile
XM_017017390.1:c.3328G>A	XP_016872879.1:p.Val1110Ile
NM_133266.5:c.3274G>A	NP_573573.2:p.Val1092Ile
NR_110766.2:n.893G>A
NM_001379226.1:c.3901G>A	NP_001366155.1:p.Val1301Ile
NM_012309.5:c.5038G>A MANE Select	NP_036441.2:p.Val1680Ile